Canonical Allele Identifier: CA250055
Gene: CYP2C19 HGNC NCBI

Linked Data

ClinVar Variation Id: 16900
ClinVar RCV Id: RCV000018399 RCV000383294 RCV000782432 RCV000782442 RCV000782450 RCV000782454 RCV000782455 RCV000782456 RCV000782457 RCV000782458 RCV000782490 RCV000782491 RCV000782529 RCV000782530 RCV000782531 RCV000782532 RCV000782533 RCV000782650 RCV000782651 RCV000782652 RCV000782653 RCV000782654 RCV000782655 RCV000782656 RCV000782657 RCV000782697 RCV000782711 RCV000782712 RCV000782716 RCV000782717 RCV000782718 RCV000782719 RCV000782720 RCV000782721 RCV000782722 RCV000782723 RCV000782724 RCV000782725 RCV000782980 RCV000782981 RCV000782982 RCV000782983 RCV000782984 RCV000782985 RCV000782986 RCV000782987 RCV000782988 RCV000782989 RCV000782990 RCV000782991 RCV000783070 RCV000783150 RCV000783151 RCV000783152 RCV000783153 RCV000783154 RCV000783183 RCV000783184 RCV000783185 RCV000783186 RCV000783187 RCV000783318 RCV000783319 RCV000783320 RCV000783321 RCV000783322 RCV000783323 RCV000783324 RCV000783466 RCV000783467 RCV000783468 RCV000783469 RCV000783470 RCV000783471 RCV000783505 RCV000783522 RCV000783585 RCV000783586 RCV000783616 RCV000783621 RCV000783628 RCV000783629 RCV000783668 RCV000783675 RCV000783681 RCV000783753 RCV000783754 RCV000783755 RCV000783756 RCV000783757 RCV000783758 RCV000783759 RCV000783884 RCV000783885 RCV000783886 RCV000783887 RCV000783925 RCV000783950 RCV000783951 RCV000783952 RCV000783953 RCV000783954 RCV000783955 RCV000783956 RCV000783957 RCV000784214 RCV000784215 RCV000784216 RCV000784217 RCV000784218 RCV000784219 RCV000784220 RCV000784221 RCV000784319 RCV000784320 RCV000784321 RCV000784322 RCV000784323 RCV000784324 RCV000784385 RCV000784408 RCV000784414 RCV000784417 RCV000784418 RCV000784419 RCV000784420 RCV000784554 RCV000784555 RCV000784556 RCV000784701 RCV000784702 RCV000784703 RCV000784704 RCV000784756 RCV000784757 RCV000784758 RCV000784759 RCV000784760 RCV000784805 RCV000784806 RCV000784807 RCV000784808 RCV000784849 RCV000784850 RCV000784851 RCV000784852 RCV000784853 RCV000784854 RCV000784855
dbSNP Id: rs28399504
ExAC: 10:96522463 A / G
gnomAD v2: 10:96522463 A / G
MyVariant Identifiers: chr10:g.96522463A>G (hg19) chr10:g.94762706A>G (hg38)
PubMed: PMID:9435198 PMID:19106083 PMID:19106084 PMID:19463375 PMID:20801498 PMID:20965456 PMID:21358751 PMID:22992668 PMID:26265231
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762706A>G , CM000672.2:g.94762706A>G GRCh38
NC_000010.10:g.96522463A>G , CM000672.1:g.96522463A>G GRCh37
NC_000010.9:g.96512453A>G NCBI36
NG_008384.2:g.5001A>G
NG_008384.3:g.5026A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371321.9:c.1A>G MANE Select ENSP00000360372.3:p.Met1Val
ENST00000371321.7:c.1A>G ENSP00000360372.3:p.Met1Val
ENST00000464755.1:c.932-12352A>G ENSP00000483243.1:n.932-12352A>G
ENST00000480405.2:c.1A>G ENSP00000483847.1:p.Met1Val
NM_000769.2:c.1A>G NP_000760.1:p.Met1Val
NM_000769.4:c.1A>G MANE Select NP_000760.1:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'